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10 Possible Causes for Abnormal Corticomedullary Differentiation, Retinal Degeneration, Secondary Optic Atrophy

  • Primary Optic Atrophy

    FIGURE 281.3 Primary optic atrophy. Extremely severe optic atrophy secondary to multiple episodes of optic neuritis.[test.aneskey.com] Degeneration of retinal ganglion cells and their axons; bilateral subacute optic neuropathy, typically with simultaneous or rapidly sequential central or cecocentral visual[unboundmedicine.com] Radiographs reveal diffuse bone sclerosis, loss of the normal corticomedullary differentiation, dense homogeneous appearance due to abnormally increased bone density with[djo.org.in]

  • Nephronophthisis 1

    The fundus, more easily seen in OD, was typical of retinitis pigmentosa, with optic disc atrophy, attenuation of vessels, and bonecorpuscle-like pigmentation in the periphery[healio.com] Mutations in AHI1, which encodes a cilium-localized protein, have been shown to cause a form of Joubert syndrome that is highly penetrant for retinal degeneration.[ncbi.nlm.nih.gov] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov]

  • Nephronophthisis 3

    The fundus, more easily seen in OD, was typical of retinitis pigmentosa, with optic disc atrophy, attenuation of vessels, and bonecorpuscle-like pigmentation in the periphery[healio.com] […] coworkers2 was called by them: "a retinal dystrophy undistlnguishable from Leber's tapeto retinal degeneration."[healio.com] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov]

  • Nephronophthisis 12

    The fundus, more easily seen in OD, was typical of retinitis pigmentosa, with optic disc atrophy, attenuation of vessels, and bonecorpuscle-like pigmentation in the periphery[healio.com] Pigmentosa Primary Cilium Retinal Degeneration Situs Inversus Cystic Kidney Nephronophthisis (NPH) is an autosomal recessive inherited cystic kidney disorder.[ciliajournal.biomedcentral.com] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov]

  • Nephronophthisis 9

    The fundus, more easily seen in OD, was typical of retinitis pigmentosa, with optic disc atrophy, attenuation of vessels, and bonecorpuscle-like pigmentation in the periphery[healio.com] Pigmentosa Primary Cilium Retinal Degeneration Situs Inversus Cystic Kidney Nephronophthisis (NPH) is an autosomal recessive inherited cystic kidney disorder.[ciliajournal.biomedcentral.com] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov]

  • Nephronophthisis 2

    The fundus, more easily seen in OD, was typical of retinitis pigmentosa, with optic disc atrophy, attenuation of vessels, and bonecorpuscle-like pigmentation in the periphery[healio.com] Pigmentosa Primary Cilium Retinal Degeneration Situs Inversus Cystic Kidney Nephronophthisis (NPH) is an autosomal recessive inherited cystic kidney disorder.[ciliajournal.biomedcentral.com] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov]

  • Nephronophthisis 13

    The fundus, more easily seen in OD, was typical of retinitis pigmentosa, with optic disc atrophy, attenuation of vessels, and bonecorpuscle-like pigmentation in the periphery[healio.com] Pigmentosa Primary Cilium Retinal Degeneration Situs Inversus Cystic Kidney Nephronophthisis (NPH) is an autosomal recessive inherited cystic kidney disorder.[ciliajournal.biomedcentral.com] Renal sonograms of all patients showed enlarged and echogenic kidneys that lacked corticomedullary differentiation.[ncbi.nlm.nih.gov]

  • Nephronophthisis 16

    The fundus, more easily seen in OD, was typical of retinitis pigmentosa, with optic disc atrophy, attenuation of vessels, and bonecorpuscle-like pigmentation in the periphery[healio.com] NPHP is a therefore considered to be a ciliopathy, and can be part of a broad spectrum of clinical disease that includes extra-renal manifestations including retinal degeneration[content.iospress.com] Renal corticomedullary cysts (HP:0000108) ........ Abnormal renal corticomedullary differentiation (HP:0005932) ...................[mseqdr.org]

  • Autosomal Recessive Optic Atrophy Type 7

    Secondary optic atrophy: In conditions with secondary optic atrophy (e.g., papilledema, papillitis), the atrophy is secondary to papilledema.[slideshare.net] […] of the retinal pigment epithelium Retinal degeneration-nanophthalmos-glaucoma syndrome Retinal dystrophy Retinal dystrophy with inner retinal dysfunction and ganglion cell[se-atlas.de] Radiographs reveal diffuse bone sclerosis, loss of the normal corticomedullary differentiation, dense homogeneous appearance due to abnormally increased bone density with[djo.org.in]

  • Brachyphalangy Polydactyly and Tibial Aplasia/Hypoplasia

    Other eye findings are microphthalmos, secondary glaucoma, congenital cataract, persistence of pupillary membrane, disk coloboma, synechia, strabismus, and optic atrophy.[healio.com] degeneration, optic atrophy, strabismus, decreased electroretinogram Neuronal ceroid-lipofuscinosis (256730) Progressive visual loss, optic atrophy, retinal degeneration,[clinicalgate.com] corticomedullary differentiation Occipital meningocele Dilated fourth ventricle Hepatic steatosis Tubulointerstitial fibrosis Tubular atrophy Undetectable electroretinogram[mendelian.co]

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